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GWAS shows the genetics behind cell-free DNA and highlights the importance of p.Arg206Cys in DNASE1L3 for non-invasive testing
Linthorst, J., Nivard, M. & Sistermans, E. A., 22 Oct 2024, In: Cell reports. 43, 10, p. 1-19 20 p., 114799.Research output: Contribution to journal › Article › Academic › peer-review
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The cell-free DNA virome of 108,349 Dutch pregnant women
Linthorst, J., Baksi, M. M. M., Welkers, M. R. A. & Sistermans, E. A., 27 Apr 2022, (E-pub ahead of print) In: Prenatal Diagnosis.Research output: Contribution to journal › Article › Academic › peer-review
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Computational analyses to characterise hidden information in short and long read sequencing data of human genomes: there’s more than meets the reference
Linthorst, J., 9 Dec 2022, s.l.: s.n.. 98 p.Research output: PhD thesis › Research HvA, graduation HvA (not in use)
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Noninvasive Prenatal Testing: Mosaic Ratio Score as a Predictor for Confined Placental Mosaicism
Linthorst, J. & Sistermans, E. A., 1 Oct 2025, In: Clinical chemistry. 71, 10, p. 1011-1013 3 p.Research output: Contribution to journal › Editorial › Academic › peer-review
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Protocol for high-precision CRISPR-Cas12a-based SNV detection on synthetic DNA, cell line cfDNA models, and liquid biopsies
Kohabir, K. A. V., Linthorst, J., Wolthuis, R. M. F. & Sistermans, E. A., 20 Jun 2025, In: STAR Protocols. 6, 2, 103696.Research output: Contribution to journal › Article › Academic › peer-review
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Detection of human cytomegalovirus cell-free DNA in pregnant women with symptomatically infected fetuses: proof-of-concept study
Faas, B. H. W., Meuleman, T., Astuti, G., Reuss, A., Stol, K., Sistermans, E. A., Linthorst, J., van Leeuwen, E., Rahamat-Langendoen, J. & Wilmink, F. A., 1 Apr 2025, In: Ultrasound in Obstetrics and Gynecology. 65, 4, p. 470-477 8 p.Research output: Contribution to journal › Article › Academic › peer-review
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